A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3392806



Internal ID14893085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224909784..224909796hg38UCSC Ensembl
Innerchr2:224909780..224909798hg38UCSC Ensembl
Outerchr2:224909768..224909812hg38UCSC Ensembl
chr2:225774501..225774513hg19UCSC Ensembl
Innerchr2:225774497..225774515hg19UCSC Ensembl
Outerchr2:225774485..225774529hg19UCSC Ensembl
chr2:225482745..225482757hg18UCSC Ensembl
Innerchr2:225482759..225482741hg18UCSC Ensembl
Outerchr2:225482729..225482773hg18UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8674701, essv8674699, essv8674702, essv8674703, essv8674700
SamplesNA19239, NA12892, NA12891, NA12878, NA19240
Known GenesDOCK10
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3392806
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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